Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA
Key facts
- Where
- Genova, Milan és Naples, OlaszországSee the 3 sites
Where in Olaszország
- IRCCS Istituto Giannina GasliniGenova, OlaszországTaking people
- Fondazione Ca' Granda Ospedale Maggiore PoliclinicoMilan, OlaszországTaking people
- Istituto di Bioscienze e Biorisorse IBBRNaples, OlaszországTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Istituto Giannina Gaslini
- Trial code
- NCT07883655
- Record updated
- 2026. október 20.
- Original description
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy. Despite recent advances in therapeutic options, the clinical management of SMA remains challenging due to the heterogeneity of disease progression and variability in treatment response.Read full original descriptionShow less
Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA - Approcci Avanzati Multi-omici e Sistemici Per Identificare Nuovi Biomarcatori Per la SMA
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy. Despite recent advances in therapeutic options, the clinical management of SMA remains challenging due to the heterogeneity of disease progression and variability in treatment response.
This study aims to identify and validate novel biomarkers to improve the diagnosis, prognosis, and therapeutic monitoring of patients with SMA through a multi-omics and translational research approach.
Inclusion: Genetically confirmed diagnosis of SMA, with homozygous deletion or mutation of the SMN1 gene, for symptomatic patients; Diagnosis of SMA through newborn screening, with genetic confirmation, for newborns; Ability of parents/legal guardians to provide informed consent for minor patients; Willingness to undergo the study procedures, including blood sampling and collection of biological specimens.
Exclusion: Participation in other clinical trials involving investigational medicinal products for SMA within the 6 months prior to enrolment; Presence of other neuromuscular or neurological diseases that could influence the clinical phenotype and biomarker profile; Presence of medical or psychological conditions that could compromise patient compliance or study safety; Refusal to participate in the study or to provide informed consent.